Results 221 to 230 of about 2,901,175 (369)

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

The gene encoding flavonol synthase contributes to lesion mimic in wheat

Crop Journal
Lesion mimic often exhibits leaf disease-like symptoms even in the absence of pathogen infection, and is characterized by a hypersensitive-response (HR) that closely linked to plant disease resistance.
Tingting Dong, Hongchun Xiong, Huijun Guo, Yongdun Xie, Linshu Zhao, Jiayu Gu, Huiyuan Li, Shirong Zhao, Yuping Ding, Xiyun Song, Luxiang Liu   +10 more
doaj  

Estimates of the Mutation Rate per Year Can Explain Why the Molecular Clock Depends on Generation Time. [PDF]

Mol Biol Evol
Lewin L, Eyre-Walker A.
europepmc   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1962-1973, December 2022., 2022
Abstract Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cognitive function in a well characterized cohort of patients with a biomarker‐based diagnosis.
Adrià Tort‐Merino, Neus Falgàs, Isabel E. Allen, Mircea Balasa, Jaume Olives, José Contador, Magdalena Castellví, Jordi Juncà‐Parella, Núria Guillén, Sergi Borrego‐Écija, Bea Bosch, Guadalupe Fernández‐Villullas, Oscar Ramos‐Campoy, Anna Antonell, Lorena Rami, Raquel Sánchez‐Valle, Albert Lladó   +16 more
wiley   +1 more source

Patterns of somatic mutation in human cancer genomes

Nature, 2007
C. Greenman, P. Stephens, Raffaella Smith, G. Dalgliesh, C. Hunter, G. Bignell, Helen R Davies, J. Teague, A. Butler, C. Stevens, S. Edkins, S. O’Meara, Imre Vastrik, Esther E. Schmidt, T. Avis, S. Barthorpe, G. Bhamra, G. Buck, Bhudipa Choudhury, J. Clements, J. Cole, E. Dicks, S. Forbes, K. Gray, Kelly Halliday, R. Harrison, K. Hills, Jonathon Hinton, A. Jenkinson, David Jones, A. Menzies, T. Mironenko, J. Perry, K. Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, J. Varian, T. Webb, S. West, S. Widaa, A. Yates, Daniel P Cahill, David N. Louis, P. Goldstraw, Andrew G. Nicholson, F. Brasseur, L. Looijenga, Barbara Weber, Y. Chiew, A. Defazio, Mel Greaves, Anthony R. Green, P. Campbell, E. Birney, D. Easton, G. Chenevix-Trench, M. Tan, S. K. Khoo, Bin Tean Teh, S. Yuen, Suet Y. Leung, R. Wooster, P. Futreal, Michael R. Stratton   +65 more
semanticscholar   +1 more source

Transcriptome signatures of human neural stem cells derived from LRRK2 gene therapeutic cells. [PDF]

Sci Rep
Kim D, Park SM, Lee SY, Chung SK.
europepmc   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

ADDITIONAL EVIDENCE ON THE EFFECT OF X-RAY AND ULTRAVIOLET RADIATION ON MUTATION IN MAIZE [PDF]

, 1957
M G Nuffer
openalex   +1 more source

Quantitative analysis of relationship between mutation rate and speed of adaptation under antibiotic exposure in Escherichia coli. [PDF]

PLoS Genet
Shibai A, Izutsu M, Kotani H, Furusawa C.   +3 more
europepmc   +1 more source